ClinVar Miner

List of variants reported as likely pathogenic by Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine

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Total variants: 54
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HGVS dbSNP
NC_000001.11:g.153812287_153823987del
NM_000814.6(GABRB3):c.630G>C (p.Gln210His)
NM_001003694.2(BRPF1):c.1158dup (p.Tyr387fs)
NM_001029896.2(WDR45):c.827+2dup rs1602537729
NM_001032221.6(STXBP1):c.1111-10_1111-6delinsG rs1588339504
NM_001081550.2(THOC2):c.3305A>G (p.Tyr1102Cys)
NM_001083962.2(TCF4):c.1738_1740del (p.Arg580del) rs1599375711
NM_001111125.3(IQSEC2):c.4092del (p.Thr1365fs)
NM_001127222.2(CACNA1A):c.3692+1G>A rs1315533129
NM_001127222.2(CACNA1A):c.4927G>A (p.Asp1643Asn) rs1064795531
NM_001134407.3(GRIN2A):c.1662C>A (p.Ser554Arg) rs1596476657
NM_001244008.2(KIF1A):c.377T>C (p.Leu126Pro)
NM_001265.6(CDX2):c.940T>C (p.Ter314Arg) rs1593181774
NM_001273.5(CHD4):c.3409A>C (p.Thr1137Pro)
NM_001303052.2(MYT1L):c.1585G>A (p.Gly529Arg) rs1275489527
NM_001303052.2(MYT1L):c.1718G>A (p.Gly573Glu)
NM_001330260.2(SCN8A):c.1258G>C (p.Ala420Pro) rs1592392873
NM_001330260.2(SCN8A):c.2811G>T (p.Trp937Cys) rs1555225835
NM_001330260.2(SCN8A):c.4501C>T (p.Gln1501Ter) rs1057520149
NM_001330260.2(SCN8A):c.4892T>C (p.Ile1631Thr) rs1085307999
NM_001347721.2(DYRK1A):c.945T>A (p.Ser315Arg) rs1569380375
NM_001348323.3(TRIP12):c.6122C>T (p.Pro2041Leu)
NM_001349338.3(FOXP1):c.1544A>G (p.His515Arg)
NM_001374828.1(ARID1B):c.7069_7070del (p.Leu2357fs)
NM_001375524.1(TRRAP):c.5596C>T (p.Arg1866Cys)
NM_002069.6(GNAI1):c.68_70del (p.Leu23del)
NM_003036.4(SKI):c.91T>G (p.Ser31Ala)
NM_003165.4(STXBP1):c.416C>T (p.Pro139Leu) rs796053353
NM_003491.4(NAA10):c.235C>T (p.Arg79Cys) rs1057524031
NM_003491.4(NAA10):c.248G>A (p.Arg83His) rs1603290366
NM_003590.5(CUL3):c.827_828del (p.Ile276fs)
NM_004187.4(KDM5C):c.1747G>T (p.Val583Phe) rs1602183890
NM_004859.4(CLTC):c.2669C>T (p.Pro890Leu) rs1555606635
NM_004985.5(KRAS):c.202_204del (p.Arg68del)
NM_005908.4(MANBA):c.1922G>A (p.Arg641His)
NM_006772.3(SYNGAP1):c.388-3C>G rs1448169616
NM_006940.6(SOX5):c.1868A>G (p.Tyr623Cys) rs1591833159
NM_007327.4(GRIN1):c.2500G>C (p.Glu834Gln) rs1588735834
NM_012199.5(AGO1):c.536TCT[1] (p.Phe180del) rs1553154062
NM_012199.5(AGO1):c.569T>C (p.Leu190Pro)
NM_015335.4(MED13L):c.2345-3C>G rs1592939069
NM_015570.4(AUTS2):c.1603_1626del (p.531HQHT[1])
NM_018297.4(NGLY1):c.982C>T (p.Arg328Cys)
NM_018486.3(HDAC8):c.466A>G (p.Asn156Asp) rs1603083434
NM_018486.3(HDAC8):c.653G>A (p.Gly218Asp) rs1603060007
NM_019842.4(KCNQ5):c.1291A>T (p.Arg431Trp)
NM_032634.4(PIGO):c.2825A>C (p.Asn942Thr)
NM_032682.5(FOXP1):c.1000G>C (p.Asp334His) rs1576028676
NM_078480.3(PUF60):c.1673_1674del (p.Ser558fs)
NM_130839.5(UBE3A):c.1864A>G (p.Asn622Asp)
NM_133436.3(ASNS):c.1439C>T rs754043007
NM_152906.7(TANGO2):c.569_592del (p.Ile190_Leu197del)
NM_203475.3(PORCN):c.884C>T (p.Pro295Leu)
NM_205768.3(ZBTB18):c.1373A>G (p.Tyr458Cys)

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